Canonical Allele Identifier: CA379562407
Gene: TUB HGNC NCBI

Linked Data

gnomAD v3: 11-8089649-G-T
gnomAD v4: 11-8089649-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8089649G>T , CM000673.2:g.8089649G>T GRCh38
NC_000011.9:g.8111196G>T , CM000673.1:g.8111196G>T GRCh37
NC_000011.8:g.8067772G>T NCBI36
NG_029912.1:g.56017G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.78G>T MANE Select ENSP00000299506.3:p.Lys26Asn
ENST00000299506.2:c.78G>T ENSP00000299506.2:p.Lys26Asn
ENST00000305253.8:c.243G>T ENSP00000305426.4:p.Lys81Asn
ENST00000534099.5:c.96G>T ENSP00000434400.1:p.Lys32Asn
NM_003320.4:c.243G>T NP_003311.2:p.Lys81Asn
NM_177972.2:c.78G>T NP_813977.1:p.Lys26Asn
XM_005253109.2:c.204G>T XP_005253166.1:p.Lys68Asn
XM_011520344.1:c.114G>T XP_011518646.1:p.Lys38Asn
XM_005253109.3:c.204G>T XP_005253166.1:p.Lys68Asn
XM_011520344.2:c.114G>T XP_011518646.1:p.Lys38Asn
NM_177972.3:c.78G>T MANE Select NP_813977.1:p.Lys26Asn
NM_003320.5:c.243G>T NP_003311.2:p.Lys81Asn